Canonical Allele Identifier: CA8371990
Community Standard Title: NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8230584C>T , CM000679.2:g.8230584C>T GRCh38
NC_000017.10:g.8133902C>T , CM000679.1:g.8133902C>T GRCh37
NC_000017.9:g.8074627C>T NCBI36
NG_032148.1:g.22512G>A
NG_032148.2:g.22512G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.2737G>A MANE Select NP_079375.3:p.Ala913Thr
ENST00000651323.1:c.2737G>A MANE Select ENSP00000498499.1:p.Ala913Thr
NM_025099.5:c.2737G>A NP_079375.3:p.Ala913Thr
NR_046431.1:n.2691G>A
NR_046431.2:n.2652G>A
ENST00000315684.12:c.2737G>A ENSP00000313759.8:p.Ala913Thr
ENST00000449476.6:c.2632G>A ENSP00000396018.2:p.Ala878Thr
ENST00000449476.7:c.2632G>A ENSP00000396018.2:p.Ala878Thr
ENST00000578240.1:n.965G>A
ENST00000578441.5:n.238G>A
ENST00000578537.1:c.439G>A
ENST00000580299.2:c.2737G>A ENSP00000462607.2:p.Ala913Thr
ENST00000581671.2:n.2726G>A
ENST00000581729.2:c.2737G>A ENSP00000462720.2:p.Ala913Thr
ENST00000581967.2:n.3189G>A
ENST00000583254.2:n.4410G>A
ENST00000584439.1:n.350G>A
ENST00000643543.1:c.*1444G>A ENSP00000494323.1:n.*1444G>A
ENST00000699849.1:c.1840G>A ENSP00000514647.1:p.Ala614Thr
ENST00000699850.1:n.2000G>A
ENST00000699851.1:n.2759G>A
ENST00000699852.1:c.*1413G>A ENSP00000514648.1:n.*1413G>A
ENST00000699853.1:c.2737G>A ENSP00000514649.1:p.Ala913Thr
ENST00000699854.1:n.2530G>A
ENST00000699855.1:n.3189G>A
ENST00000699856.1:c.2737G>A ENSP00000514650.1:p.Ala913Thr
ENST00000699857.1:n.2745G>A
ENST00000699858.1:c.*1350G>A ENSP00000514651.1:n.*1350G>A
ENST00000699859.1:c.2608G>A ENSP00000514652.1:p.Ala870Thr
ENST00000699860.1:n.649G>A
ENST00000699861.1:n.2759G>A
ENST00000699862.1:n.3697G>A
XM_006721577.2:c.2608G>A XP_006721640.1:p.Ala870Thr
XM_006721577.3:c.2608G>A XP_006721640.1:p.Ala870Thr
XM_006721578.2:c.2737G>A XP_006721641.1:p.Ala913Thr
XM_006721578.3:c.2737G>A XP_006721641.1:p.Ala913Thr
XM_006721579.2:c.2737G>A XP_006721642.1:p.Ala913Thr
XM_011524010.1:c.2632G>A XP_011522312.1:p.Ala878Thr
XM_011524010.2:c.2632G>A XP_011522312.1:p.Ala878Thr
XM_011524011.1:c.1840G>A XP_011522313.1:p.Ala614Thr
XM_011524011.2:c.1840G>A XP_011522313.1:p.Ala614Thr
XR_001752639.1:n.2651G>A
XR_001752640.1:n.2780G>A
XR_001752641.1:n.2780G>A
XR_001752642.1:n.2586G>A
XR_001752643.1:n.3210G>A
XR_002958073.1:n.2586G>A
XR_429823.2:n.2780G>A
XR_429823.3:n.2780G>A
XR_429824.2:n.2780G>A
XR_429824.3:n.2780G>A
XR_429825.1:n.2586G>A